Article
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Nature communications - 9 Sept 2014
Carmi Shai, Hui Ken Y, Kochav Ethan, Liu Xinmin, Xue James, Grady Fillan, Guha Saurav, Upadhyay Kinnari, Ben-Avraham Dan, Mukherjee Semanti, Bowen B Monica, Thomas Tinu, Vijai Joseph, Cruts Marc, Froyen Guy, Lambrechts Diether, Plaisance Stéphane, Van Broeckhoven Christine, Van Damme Philip, Van Marck Herwig, Barzilai Nir, Darvasi Ariel, Offit Kenneth, Bressman Susan, Ozelius Laurie J, Peter Inga, Cho Judy H, Ostrer Harry, Atzmon Gil, Clark Lorraine N, Lencz Todd, Pe'er Itsik
Abstract excerpt
The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and Middle Eastern groups, with genetic diversity patterns conducive to disease mapping. Here we report high-depth sequencing of 128 complete genomes of AJ controls. Compared with European samples, our AJ panel has 47% more novel variants per genome and is eightfold more effective at filtering benign variants out of AJ clinical genomes....
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